Randy Foster: Generations

Published: Friday, May 3, 2013 at 02:42 PM.

“Dr. Derr,
Chapel Hill
on
110,”
a receptionist announced on the intercom.

The call announced the arrival of important news, about whether Sarah had inherited the Huntington’s disease gene from her mother.

We were in a waiting room at CCHC. The call arrived at 4:05 p.m. Christmas Eve 2011, five minutes late, and it was another 15 minutes before Dr. Derr saw us into an examination room. She was to be our escort through these thick and frightening woods as something unknown crashed toward us. Results of the genetic testing would be released only in the presence of a medical professional — just in case there was a bad reaction to the news.

The 4 p.m. call dominated our thoughts the whole day, and in Sarah’s case, her whole life, ever since her grandmother and great aunt died of the brain-wasting disease.

The chances of inheriting
Huntington
’s is 50 percent, but it seems that the odds have been cruel to Sarah’s family. Her mother has it. Her uncle died of it. In respect to the Gale family tree, chance has been near certainty.

Dr. Derr entered the examining room after a cordial farewell to the patient before us. Pleasantries were exchanged; it has been some time since either of us had seen her.

“Dr. Derr, Chapel Hill on 110,” a receptionist announced on the intercom.

The call announced the arrival of important news, about whether Sarah had inherited the Huntington’s disease gene from her mother.

We were in a waiting room at CCHC. The call arrived at 4:05 p.m. Christmas Eve 2011, five minutes late, and it was another 15 minutes before Dr. Derr saw us into an examination room. She was to be our escort through these thick and frightening woods as something unknown crashed toward us. Results of the genetic testing would be released only in the presence of a medical professional — just in case there was a bad reaction to the news.

The 4 p.m. call dominated our thoughts the whole day, and in Sarah’s case, her whole life, ever since her grandmother and great aunt died of the brain-wasting disease.

The chances of inheriting Huntington’s is 50 percent, but it seems that the odds have been cruel to Sarah’s family. Her mother has it. Her uncle died of it. In respect to the Gale family tree, chance has been near certainty.

Dr. Derr entered the examining room after a cordial farewell to the patient before us. Pleasantries were exchanged; it has been some time since either of us had seen her.

A moment’s pause, then, “They want you to call on your cell phone,” Dr. Derr told Sarah. Sarah found the number on her list of recent calls. This was the last step in a process, not the first, which occurred three weeks prior at UNC Hospitals in Chapel Hill, where she met with a psychologist, a neurologist and a counselor, all looking for reasons to talk Sarah out of being tested.

Though doubtful and concerned that a positive test would make her suicidal, the staff decided to approve the blood test at Sarah’s urging. She wanted to know the truth so that she could plan the rest of her life.

The phone rang in Chapel Hill. A doctor answered.

“The news isn’t what we’d hoped,” the doctor said over the phone. The rest of what she said was a blur, technical things about genes and resources available and next steps and disappointment.

This wasn’t just news. This was a death sentence, and not a quick death or a lingering death, but a death spread out over a decade or more, as the brain undergoes an assault by a rogue protein that slowly eats it away.

But there is a twinkle of hope. The flavor of Huntington’s that has plagued the Gale family line is late onset, with death occurring around a sufferer’s 80th year. The 20 to 30 years prior are no holiday as motor and cognitive functions erode.

But for Sarah, just a month shy of her 45th birthday when she was diagnosed, it could be years before things start getting rough — plenty of time for treatments to be developed, and maybe even a cure.

Meanwhile, what to treat? What kind of life during intervening years? How to communicate this to family and friends?

May is Huntington’s Disease Awareness Month, and Sarah asked that I publish the above essay, which I wrote the day we learned her diagnosis. At first Sarah didn’t want anyone to know about her Huntington’s, or HD. I asked her what changed. Here’s her reply:

“HD has historically been hidden and shameful. People were misdiagnosed and are often thought to be drunk. There is a growing grassroots movement to bring HD out of the shadows and into public awareness,” she replied.

“Why do I want people to know about it? Scientists have isolated the gene and know so much more now about the genetic code. Research in HD cures could translate to cures for less rare diseases like Parkinson’s and Alzheimer’s.

“I want a cure to be around for my kids, if not me. If there are other people out there with HD, I want them to know they are not alone.”

Thanks for letting us take up some of your Sunday morning.

Randy Foster is managing editor of the Sun Journal. Contact him at randy.foster@newbernsj.com, or call 252-635-5663. Follow him on Twitter @rivereditor.